A cystic fibrosis patient homozygous for 621 + 1G-->T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux

M Witt; A Pogorzelski; J Zebrak; E Rutkiewicz

doi:10.1111/j.1399-0004.1996.tb02370.x

A cystic fibrosis patient homozygous for 621 + 1G-->T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux

Clin Genet. 1996 Sep;50(3):149-51. doi: 10.1111/j.1399-0004.1996.tb02370.x.

Authors

M Witt¹, A Pogorzelski, J Zebrak, E Rutkiewicz

Affiliation

¹ Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.

PMID: 8946114
DOI: 10.1111/j.1399-0004.1996.tb02370.x

Abstract

A cystic fibrosis patient homozygous for 621 + 1G-->T mutation of the CFTR gene has been identified during a molecular screening program of Polish CF families. The patient is currently a 21-year-old female with severe pulmonary involvement, mild pancreatic insufficiency and complicated gastroesophageal reflux.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Bronchitis / genetics*
Cystic Fibrosis / genetics*
Cystic Fibrosis / physiopathology
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Exocrine Pancreatic Insufficiency / genetics*
Exocrine Pancreatic Insufficiency / physiopathology
Female
Gastroesophageal Reflux / genetics*
Gastroesophageal Reflux / physiopathology
Guanine*
Homozygote*
Humans
Point Mutation
Thymine*

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator
Guanine
Thymine